Wolfram syndrome 1
Information
- Disease name
- Wolfram syndrome 1
- Disease ID
- DOID:0110629
- Description
- "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21538838]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:10632
- Cross Reference ID (Disease Ontology)
- ICD10CM:E13.8
- Cross Reference ID (Disease Ontology)
- MIM:222300
- Exact Synonym (Disease Ontology)
- diabetes mellitus AND insipidus with optic atrophy AND deafness
- Exact Synonym (Disease Ontology)
- DIDMOAD
- Exact Synonym (Disease Ontology)
- WFS1